hereditary fructose intolerance

Pathology

• inability to metabolize fructose & related sugars

Genetics

• autosomal recessive
• associated with defects in ALDOB

Clinical manifestations

• symptoms follow ingestion of fructose, sucrose, or sorbitol
• nausea
• abdominal pain

Laboratory

• serum glucose: hypoglycemia
• amino acids in urine: aminoaciduria
• serum uric acid: hyperuricemia
• urine uric acid: uricosuria
• urine fructose: fructosuria

Complications

• if not treated properly, episodes of hypoglycemia, general ill condition, & risk of death

Management

• complete exclusion of fructose results in dramatic recovery

More general terms

• carbohydrate inborn error of metabolism
• food intolerance

Additional terms

• fructose-1-phosphate aldolase

Database

• OMIM: https://mirror.omim.org/entry/229600